Incidental Mutation 'IGL01469:Sgsm2'
ID |
88206 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sgsm2
|
Ensembl Gene |
ENSMUSG00000038351 |
Gene Name |
small G protein signaling modulator 2 |
Synonyms |
D630003G22Rik, Rutbc1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.225)
|
Stock # |
IGL01469
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
74740087-74787886 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 74744697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 796
(I796L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050496
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057631]
[ENSMUST00000081799]
|
AlphaFold |
Q80U12 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057631
AA Change: I796L
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000050496 Gene: ENSMUSG00000038351 AA Change: I796L
Domain | Start | End | E-Value | Type |
RUN
|
128 |
188 |
4.3e-18 |
SMART |
low complexity region
|
453 |
476 |
N/A |
INTRINSIC |
TBC
|
563 |
965 |
3.57e-34 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081799
AA Change: I841L
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000080489 Gene: ENSMUSG00000038351 AA Change: I841L
Domain | Start | End | E-Value | Type |
RUN
|
128 |
188 |
4.3e-18 |
SMART |
low complexity region
|
446 |
453 |
N/A |
INTRINSIC |
low complexity region
|
498 |
521 |
N/A |
INTRINSIC |
TBC
|
608 |
1010 |
3.57e-34 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123573
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
A |
G |
4: 144,255,192 (GRCm39) |
Q204R |
possibly damaging |
Het |
Actn2 |
C |
T |
13: 12,325,796 (GRCm39) |
E60K |
possibly damaging |
Het |
Alpk1 |
T |
C |
3: 127,471,401 (GRCm39) |
|
probably null |
Het |
Ccdc107 |
A |
G |
4: 43,495,751 (GRCm39) |
N218S |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,433,504 (GRCm39) |
M60K |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,934,567 (GRCm39) |
Q378R |
probably damaging |
Het |
Dnaaf6rt |
A |
T |
1: 31,262,510 (GRCm39) |
D164V |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,902,688 (GRCm39) |
|
probably benign |
Het |
Eif2b4 |
T |
C |
5: 31,345,111 (GRCm39) |
D190G |
probably benign |
Het |
Fmo5 |
A |
G |
3: 97,558,884 (GRCm39) |
N448S |
probably benign |
Het |
Gal3st2c |
A |
G |
1: 93,937,039 (GRCm39) |
N328S |
probably benign |
Het |
Gbf1 |
A |
T |
19: 46,267,803 (GRCm39) |
E1271V |
probably damaging |
Het |
Ifitm6 |
A |
T |
7: 140,596,725 (GRCm39) |
V16D |
probably damaging |
Het |
Ighv2-4 |
A |
G |
12: 113,616,966 (GRCm39) |
|
probably null |
Het |
Kng2 |
T |
A |
16: 22,818,577 (GRCm39) |
K305I |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,420,283 (GRCm39) |
R900Q |
probably damaging |
Het |
Maml1 |
A |
G |
11: 50,157,353 (GRCm39) |
M274T |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,758,495 (GRCm39) |
E278G |
probably damaging |
Het |
Myo1h |
A |
G |
5: 114,499,330 (GRCm39) |
T164A |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,257,093 (GRCm39) |
S135R |
probably benign |
Het |
Nrbf2 |
A |
G |
10: 67,105,919 (GRCm39) |
L41P |
probably damaging |
Het |
Or10a48 |
A |
G |
7: 108,424,534 (GRCm39) |
V224A |
probably benign |
Het |
Or1j13 |
T |
C |
2: 36,369,836 (GRCm39) |
Y102C |
probably benign |
Het |
Or1o11 |
T |
A |
17: 37,756,426 (GRCm39) |
S5T |
probably benign |
Het |
Or52e5 |
T |
A |
7: 104,719,595 (GRCm39) |
M307K |
probably benign |
Het |
Or6c6 |
A |
G |
10: 129,186,449 (GRCm39) |
M6V |
probably benign |
Het |
Otoa |
T |
C |
7: 120,754,496 (GRCm39) |
|
probably null |
Het |
Plxnb1 |
T |
C |
9: 108,934,483 (GRCm39) |
|
probably benign |
Het |
Ppp1r42 |
A |
T |
1: 10,073,458 (GRCm39) |
|
probably null |
Het |
Rad54l2 |
T |
A |
9: 106,599,957 (GRCm39) |
K100M |
probably damaging |
Het |
Rnf112 |
T |
A |
11: 61,342,167 (GRCm39) |
T308S |
possibly damaging |
Het |
Scaper |
T |
C |
9: 55,767,051 (GRCm39) |
D466G |
probably damaging |
Het |
Shank3 |
T |
C |
15: 89,405,477 (GRCm39) |
L476P |
probably damaging |
Het |
Shkbp1 |
T |
C |
7: 27,055,366 (GRCm39) |
T6A |
probably benign |
Het |
Slc14a2 |
A |
T |
18: 78,198,781 (GRCm39) |
I783N |
probably damaging |
Het |
Stat1 |
A |
G |
1: 52,186,529 (GRCm39) |
D447G |
possibly damaging |
Het |
Tekt3 |
T |
G |
11: 62,964,294 (GRCm39) |
I208S |
probably damaging |
Het |
Tenm3 |
A |
T |
8: 48,689,458 (GRCm39) |
V2043E |
probably damaging |
Het |
Tgm3 |
T |
C |
2: 129,866,414 (GRCm39) |
Y111H |
probably damaging |
Het |
Tph2 |
T |
A |
10: 114,915,664 (GRCm39) |
R459* |
probably null |
Het |
Vmn2r109 |
T |
C |
17: 20,761,671 (GRCm39) |
Y562C |
probably damaging |
Het |
|
Other mutations in Sgsm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02164:Sgsm2
|
APN |
11 |
74,756,242 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02236:Sgsm2
|
APN |
11 |
74,750,698 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02330:Sgsm2
|
APN |
11 |
74,749,493 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02352:Sgsm2
|
APN |
11 |
74,782,900 (GRCm39) |
splice site |
probably benign |
|
IGL02359:Sgsm2
|
APN |
11 |
74,782,900 (GRCm39) |
splice site |
probably benign |
|
IGL03061:Sgsm2
|
APN |
11 |
74,741,962 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03180:Sgsm2
|
APN |
11 |
74,759,401 (GRCm39) |
critical splice donor site |
probably null |
|
R0208:Sgsm2
|
UTSW |
11 |
74,759,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R0433:Sgsm2
|
UTSW |
11 |
74,749,016 (GRCm39) |
splice site |
probably null |
|
R0517:Sgsm2
|
UTSW |
11 |
74,758,477 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0755:Sgsm2
|
UTSW |
11 |
74,756,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R1439:Sgsm2
|
UTSW |
11 |
74,759,964 (GRCm39) |
missense |
probably benign |
0.34 |
R1527:Sgsm2
|
UTSW |
11 |
74,744,674 (GRCm39) |
nonsense |
probably null |
|
R1713:Sgsm2
|
UTSW |
11 |
74,787,652 (GRCm39) |
missense |
probably null |
0.04 |
R1962:Sgsm2
|
UTSW |
11 |
74,782,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R2189:Sgsm2
|
UTSW |
11 |
74,743,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R4259:Sgsm2
|
UTSW |
11 |
74,782,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R4261:Sgsm2
|
UTSW |
11 |
74,782,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R4408:Sgsm2
|
UTSW |
11 |
74,742,592 (GRCm39) |
missense |
probably damaging |
0.99 |
R4590:Sgsm2
|
UTSW |
11 |
74,741,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6137:Sgsm2
|
UTSW |
11 |
74,741,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R6162:Sgsm2
|
UTSW |
11 |
74,782,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R6457:Sgsm2
|
UTSW |
11 |
74,755,995 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6681:Sgsm2
|
UTSW |
11 |
74,756,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R6722:Sgsm2
|
UTSW |
11 |
74,756,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R6986:Sgsm2
|
UTSW |
11 |
74,782,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R7205:Sgsm2
|
UTSW |
11 |
74,745,319 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7209:Sgsm2
|
UTSW |
11 |
74,745,151 (GRCm39) |
missense |
probably damaging |
0.98 |
R7655:Sgsm2
|
UTSW |
11 |
74,756,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R7656:Sgsm2
|
UTSW |
11 |
74,756,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R8526:Sgsm2
|
UTSW |
11 |
74,759,847 (GRCm39) |
missense |
probably benign |
0.17 |
R9112:Sgsm2
|
UTSW |
11 |
74,756,222 (GRCm39) |
nonsense |
probably null |
|
R9184:Sgsm2
|
UTSW |
11 |
74,782,834 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9226:Sgsm2
|
UTSW |
11 |
74,748,960 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9391:Sgsm2
|
UTSW |
11 |
74,744,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R9458:Sgsm2
|
UTSW |
11 |
74,759,557 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Posted On |
2013-11-18 |